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苗勒管畸形的遗传易感性:一例报告

Genetic Predisposition in Müllerian Malformations: A Case Report.

作者信息

Rendón-Molina Alejandro, Olguín-Ortega Andrea

机构信息

Department of Gynecology, National Institute of Perinatology, Mexico City, MEX.

出版信息

Cureus. 2025 Jun 17;17(6):e86228. doi: 10.7759/cureus.86228. eCollection 2025 Jun.

DOI:10.7759/cureus.86228
PMID:40677440
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12270508/
Abstract

Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component. We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate uterus) who presented with difficulty inserting tampons and menstrual cups. Physical examination revealed a 3 cm longitudinal vaginal septum, which was confirmed by magnetic resonance imaging (MRI) as a 4 cm septum in the lower two-thirds of the vagina, with no abnormalities in the uterus or cervix. Surgical resection was performed without complications, and the patient recovered uneventfully with standard postoperative care. This case points out the relevance of recognizing familial patterns in MM and suggests that early evaluation and counseling may improve reproductive outcomes and minimize associated complications.

摘要

苗勒管畸形(MM)是女性生殖道的先天性异常,可能具有遗传因素。我们报告了一名20岁女性的病例,她有明显的MM家族史(母亲和祖母有纵向阴道纵隔,姑姑有双角子宫),出现了插入卫生棉条和月经杯困难的情况。体格检查发现有一个3厘米的纵向阴道纵隔,磁共振成像(MRI)证实为阴道下三分之二处有一个4厘米的纵隔,子宫和宫颈无异常。进行了手术切除,无并发症,患者经标准术后护理顺利康复。该病例指出了认识MM家族模式的重要性,并表明早期评估和咨询可能改善生殖结局并将相关并发症降至最低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a00/12270508/6775bb3d6a07/cureus-0017-00000086228-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a00/12270508/70932bf67003/cureus-0017-00000086228-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a00/12270508/6775bb3d6a07/cureus-0017-00000086228-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a00/12270508/70932bf67003/cureus-0017-00000086228-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a00/12270508/6775bb3d6a07/cureus-0017-00000086228-i02.jpg

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本文引用的文献

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Reprod Biol Endocrinol. 2024 Dec 19;22(1):157. doi: 10.1186/s12958-024-01336-1.
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Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.迈耶-罗基坦斯基-库斯特-豪泽综合征(MRKH)的遗传学:进展与影响
Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024.
3
Müllerian Anomalies: Presentation, Diagnosis, and Counseling.苗勒管畸形:表现、诊断和咨询。
Obstet Gynecol. 2024 Mar 1;143(3):369-377. doi: 10.1097/AOG.0000000000005469. Epub 2023 Nov 22.
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Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.HOXA 基因的遗传和表型连续体:一例 HOXA9/HOXA13 双突变。
Mol Med Rep. 2023 Mar;27(3). doi: 10.3892/mmr.2023.12946. Epub 2023 Feb 3.
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Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Mayer-Rokitansky-Küster-Hauser(MRKH)综合征遗传病因的鉴定:文献系统综述
Children (Basel). 2022 Jun 27;9(7):961. doi: 10.3390/children9070961.
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Biol Reprod. 2022 Jan 13;106(1):9-23. doi: 10.1093/biolre/ioab166.
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Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.研究 Müllerian 管异常——从表型分类到发现病因。
Dis Model Mech. 2021 Jun 1;14(6). doi: 10.1242/dmm.047977. Epub 2021 Jun 23.
8
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